PDF(Pubmed)
Abstract：
Alstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old female who presented with elevated creatinine. Her past medical history was significant for hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart problems. She had genetic testing done that revealed that she was homozygous for the ALMS1 gene and was diagnosed with Alstrom syndrome. She was followed by nephrology in the clinic and had chronic kidney disease (CKD) stage V. The patient traveled to Italy and was lost to follow-up.
摘要：
Alstrom综合征是一种常染色体隐性疾病。它影响多个系统，包括心血管,肾,内分泌，和眼睛。我们的患者是一名25岁的女性，其肌酐升高。她的既往病史是甲状腺功能减退症，多囊卵巢综合征,失明,白内障,听力损失,还有心脏问题.她进行了基因测试，发现她是ALMS1基因的纯合子，并被诊断出患有Alstrom综合征。她在诊所接受肾病学随访，患有慢性肾病（CKD）V期。患者前往意大利，随访失败。
